Mutagenetix > Incidental Mutation

Incidental Mutation 'R5978:Nlrc5'

481255

Institutional Source

Beutler Lab

Gene Symbol

Nlrc5

Ensembl Gene

ENSMUSG00000074151

Gene Name

NLR family, CARD domain containing 5

Synonyms

AI451557

MMRRC Submission

044160-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95160984-95253900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95215221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 940 (N940Y)

Ref Sequence

ENSEMBL: ENSMUSP00000148540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053085] [ENSMUST00000182409] [ENSMUST00000211816]

AlphaFold

C3VPR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053085
AA Change: N940Y

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: N940Y

Domain	Start	End	E-Value	Type
low complexity region	136	151	N/A	INTRINSIC
Pfam:NACHT	223	386	1.8e-32	PFAM
LRR	716	743	6.89e1	SMART
LRR	744	771	9.86e1	SMART
LRR	772	796	1.22e2	SMART
LRR	844	870	2.16e2	SMART
LRR	871	898	1.76e-1	SMART
LRR	1006	1033	1.9e0	SMART
LRR	1034	1061	4.51e1	SMART
low complexity region	1141	1169	N/A	INTRINSIC
LRR	1240	1267	2.67e1	SMART
LRR	1273	1295	1.22e1	SMART
low complexity region	1341	1351	N/A	INTRINSIC
LRR	1519	1546	5.48e1	SMART
LRR	1547	1574	3.36e1	SMART
LRR	1575	1602	1.69e1	SMART
LRR	1603	1630	8.99e-1	SMART
LRR	1631	1654	5.26e0	SMART
LRR	1659	1686	2.81e0	SMART
LRR	1687	1714	1.6e-4	SMART
LRR	1715	1742	1.06e0	SMART
LRR	1743	1768	8e0	SMART
LRR	1793	1820	2.06e1	SMART
LRR	1821	1848	5.42e-2	SMART
LRR	1849	1876	3.54e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000182409
AA Change: N940Y

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000183132

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211816
AA Change: N940Y

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cytokine production induced by virus and bacteria infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks6	T	A	4: 47,049,252 (GRCm39)	S218C	probably damaging	Het
Atp2c2	G	A	8: 120,476,614 (GRCm39)		probably null	Het
Ccdc146	T	G	5: 21,521,966 (GRCm39)	I353L	probably benign	Het
Cst3	A	T	2: 148,714,741 (GRCm39)	M112K	probably benign	Het
Cst3	T	G	2: 148,714,742 (GRCm39)	M112L	probably benign	Het
Cyp2j11	A	C	4: 96,207,589 (GRCm39)	L242R	probably damaging	Het
Eif5b	T	C	1: 38,037,361 (GRCm39)		probably null	Het
Espl1	A	G	15: 102,224,209 (GRCm39)	I1253M	possibly damaging	Het
Fstl5	C	T	3: 76,052,392 (GRCm39)	H41Y	probably damaging	Het
Gm11011	T	C	2: 169,426,361 (GRCm39)	K84R	unknown	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Heatr5b	C	A	17: 79,113,465 (GRCm39)	V923F	probably damaging	Het
Hnrnpll	G	A	17: 80,341,620 (GRCm39)	T473M	probably damaging	Het
Iars1	T	A	13: 49,876,469 (GRCm39)	Y845N	probably damaging	Het
Il34	T	A	8: 111,469,317 (GRCm39)	D166V	probably damaging	Het
Kel	T	A	6: 41,664,979 (GRCm39)	H595L	probably benign	Het
Krt77	T	C	15: 101,771,363 (GRCm39)	I313M	probably benign	Het
Krt84	T	C	15: 101,438,665 (GRCm39)	E274G	probably damaging	Het
Mctp2	T	C	7: 71,739,936 (GRCm39)	Y818C	probably damaging	Het
Mrc1	A	T	2: 14,320,204 (GRCm39)	Y1046F	probably damaging	Het
Myom1	A	T	17: 71,424,438 (GRCm39)	D1429V	probably damaging	Het
Ncapg2	T	C	12: 116,388,291 (GRCm39)	M325T	possibly damaging	Het
Nf1	T	A	11: 79,431,245 (GRCm39)	I1902N	probably damaging	Het
Nkain3	A	T	4: 20,485,026 (GRCm39)		probably null	Het
Nlrp9a	T	A	7: 26,256,703 (GRCm39)	I107K	probably damaging	Het
Ntn5	T	C	7: 45,343,437 (GRCm39)	S328P	possibly damaging	Het
Or1j17	A	C	2: 36,578,694 (GRCm39)	K227Q	probably benign	Het
Parp8	A	C	13: 117,032,268 (GRCm39)	S302A	probably benign	Het
Ptgr2	G	T	12: 84,342,032 (GRCm39)	E27*	probably null	Het
Rnf115	T	A	3: 96,695,982 (GRCm39)	I256N	probably damaging	Het
Ryr3	T	A	2: 112,502,614 (GRCm39)	H3515L	probably benign	Het
Scel	A	G	14: 103,766,690 (GRCm39)		probably null	Het
Slc4a5	T	A	6: 83,254,518 (GRCm39)	S572T	probably benign	Het
Slc4a9	T	G	18: 36,668,456 (GRCm39)	I705S	probably damaging	Het
Spint4	C	T	2: 164,542,252 (GRCm39)	P101L	probably damaging	Het
Syt9	T	A	7: 107,035,620 (GRCm39)	D212E	probably benign	Het
Tmem39a	T	A	16: 38,411,392 (GRCm39)	M449K	probably benign	Het
Ttn	T	C	2: 76,639,143 (GRCm39)	T13877A	possibly damaging	Het
Ube2v2	T	C	16: 15,394,991 (GRCm39)	N20S	probably benign	Het
Vmn1r14	C	T	6: 57,210,929 (GRCm39)	S169F	probably benign	Het
Vps13d	T	C	4: 144,849,181 (GRCm39)	H2410R	probably benign	Het
Wdr81	G	A	11: 75,335,224 (GRCm39)	L1781F	probably damaging	Het
Zfp91	A	G	19: 12,747,515 (GRCm39)	I536T	probably benign	Het

Other mutations in Nlrc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Nlrc5	APN	8	95,228,839 (GRCm39)	splice site	probably benign
IGL00232:Nlrc5	APN	8	95,211,251 (GRCm39)	critical splice donor site	probably null
IGL00324:Nlrc5	APN	8	95,248,107 (GRCm39)	missense	probably damaging	1.00
IGL02715:Nlrc5	APN	8	95,201,296 (GRCm39)	missense	probably damaging	1.00
IGL02992:Nlrc5	APN	8	95,233,201 (GRCm39)	missense	possibly damaging	0.69
IGL03095:Nlrc5	APN	8	95,248,536 (GRCm39)	splice site	probably benign
IGL03389:Nlrc5	APN	8	95,248,102 (GRCm39)	missense	probably damaging	1.00
IGL03406:Nlrc5	APN	8	95,203,483 (GRCm39)	missense	probably benign	0.01
cassis	UTSW	8	95,203,021 (GRCm39)	nonsense	probably null
cowberry	UTSW	8	95,218,153 (GRCm39)	missense	possibly damaging	0.83
lingon	UTSW	8	95,208,488 (GRCm39)	missense	probably damaging	1.00
R0037:Nlrc5	UTSW	8	95,216,163 (GRCm39)	missense	probably benign	0.00
R0048:Nlrc5	UTSW	8	95,201,284 (GRCm39)	missense	possibly damaging	0.81
R0092:Nlrc5	UTSW	8	95,216,222 (GRCm39)	splice site	probably benign
R0506:Nlrc5	UTSW	8	95,219,753 (GRCm39)	splice site	probably benign
R0548:Nlrc5	UTSW	8	95,248,411 (GRCm39)	missense	probably null	0.09
R2014:Nlrc5	UTSW	8	95,252,138 (GRCm39)	splice site	probably benign
R3051:Nlrc5	UTSW	8	95,203,343 (GRCm39)	missense	probably benign	0.01
R3776:Nlrc5	UTSW	8	95,199,467 (GRCm39)	missense	possibly damaging	0.48
R3837:Nlrc5	UTSW	8	95,237,929 (GRCm39)	splice site	probably benign
R4012:Nlrc5	UTSW	8	95,202,620 (GRCm39)	missense	possibly damaging	0.92
R4367:Nlrc5	UTSW	8	95,203,192 (GRCm39)	missense	probably damaging	1.00
R4400:Nlrc5	UTSW	8	95,220,981 (GRCm39)	missense	probably benign	0.08
R4469:Nlrc5	UTSW	8	95,247,467 (GRCm39)	missense	probably damaging	1.00
R4561:Nlrc5	UTSW	8	95,203,774 (GRCm39)	missense	probably damaging	1.00
R4584:Nlrc5	UTSW	8	95,203,903 (GRCm39)	missense	probably damaging	0.96
R4758:Nlrc5	UTSW	8	95,238,956 (GRCm39)	missense	possibly damaging	0.70
R4834:Nlrc5	UTSW	8	95,232,113 (GRCm39)	missense	probably benign	0.00
R4896:Nlrc5	UTSW	8	95,247,844 (GRCm39)	unclassified	probably benign
R5004:Nlrc5	UTSW	8	95,247,844 (GRCm39)	unclassified	probably benign
R5018:Nlrc5	UTSW	8	95,252,080 (GRCm39)	missense	probably damaging	1.00
R5115:Nlrc5	UTSW	8	95,203,447 (GRCm39)	missense	possibly damaging	0.67
R5116:Nlrc5	UTSW	8	95,208,488 (GRCm39)	missense	probably damaging	1.00
R5126:Nlrc5	UTSW	8	95,201,299 (GRCm39)	missense	possibly damaging	0.95
R5148:Nlrc5	UTSW	8	95,203,321 (GRCm39)	missense	probably damaging	1.00
R5224:Nlrc5	UTSW	8	95,220,944 (GRCm39)	missense	probably benign	0.26
R5527:Nlrc5	UTSW	8	95,217,044 (GRCm39)	missense	probably damaging	1.00
R5640:Nlrc5	UTSW	8	95,202,421 (GRCm39)	missense	probably benign	0.02
R5705:Nlrc5	UTSW	8	95,202,385 (GRCm39)	missense	probably benign	0.00
R5778:Nlrc5	UTSW	8	95,206,154 (GRCm39)	missense	possibly damaging	0.66
R5830:Nlrc5	UTSW	8	95,199,542 (GRCm39)	missense	probably damaging	1.00
R5850:Nlrc5	UTSW	8	95,247,675 (GRCm39)	missense	probably benign	0.00
R6335:Nlrc5	UTSW	8	95,228,902 (GRCm39)	missense	probably benign	0.01
R6372:Nlrc5	UTSW	8	95,206,378 (GRCm39)	missense	probably damaging	0.98
R6486:Nlrc5	UTSW	8	95,247,927 (GRCm39)	splice site	probably null
R6765:Nlrc5	UTSW	8	95,216,996 (GRCm39)	missense	probably benign	0.20
R6861:Nlrc5	UTSW	8	95,247,857 (GRCm39)	unclassified	probably benign
R6869:Nlrc5	UTSW	8	95,248,583 (GRCm39)	missense	probably benign	0.00
R7134:Nlrc5	UTSW	8	95,206,350 (GRCm39)	missense	probably damaging	0.99
R7204:Nlrc5	UTSW	8	95,218,153 (GRCm39)	missense	possibly damaging	0.83
R7231:Nlrc5	UTSW	8	95,248,433 (GRCm39)	critical splice donor site	probably null
R7309:Nlrc5	UTSW	8	95,200,670 (GRCm39)	missense	probably benign	0.01
R7368:Nlrc5	UTSW	8	95,203,021 (GRCm39)	nonsense	probably null
R7497:Nlrc5	UTSW	8	95,248,598 (GRCm39)	missense	probably damaging	1.00
R7606:Nlrc5	UTSW	8	95,203,745 (GRCm39)	missense	possibly damaging	0.67
R7611:Nlrc5	UTSW	8	95,239,276 (GRCm39)	critical splice donor site	probably null
R7685:Nlrc5	UTSW	8	95,248,028 (GRCm39)	splice site	probably null
R7810:Nlrc5	UTSW	8	95,231,772 (GRCm39)	missense	possibly damaging	0.85
R7829:Nlrc5	UTSW	8	95,248,397 (GRCm39)	missense	probably damaging	1.00
R7910:Nlrc5	UTSW	8	95,219,720 (GRCm39)	missense	probably benign	0.00
R7921:Nlrc5	UTSW	8	95,214,292 (GRCm39)	missense	probably damaging	1.00
R8131:Nlrc5	UTSW	8	95,208,420 (GRCm39)	missense	probably damaging	1.00
R8237:Nlrc5	UTSW	8	95,252,753 (GRCm39)	missense	unknown
R8493:Nlrc5	UTSW	8	95,249,848 (GRCm39)	missense	probably damaging	1.00
R8888:Nlrc5	UTSW	8	95,252,118 (GRCm39)	missense	probably benign	0.04
R8964:Nlrc5	UTSW	8	95,232,116 (GRCm39)	missense	possibly damaging	0.54
R9053:Nlrc5	UTSW	8	95,217,013 (GRCm39)	missense	probably benign	0.00
R9058:Nlrc5	UTSW	8	95,238,938 (GRCm39)	missense	possibly damaging	0.86
R9161:Nlrc5	UTSW	8	95,213,274 (GRCm39)	missense	probably damaging	0.97
R9278:Nlrc5	UTSW	8	95,237,908 (GRCm39)	missense	probably benign	0.00
R9285:Nlrc5	UTSW	8	95,199,604 (GRCm39)	missense	probably damaging	1.00
R9405:Nlrc5	UTSW	8	95,199,652 (GRCm39)	missense	probably damaging	0.98
R9591:Nlrc5	UTSW	8	95,249,309 (GRCm39)	missense	probably damaging	1.00
R9620:Nlrc5	UTSW	8	95,203,034 (GRCm39)	missense	probably benign	0.44
RF021:Nlrc5	UTSW	8	95,203,516 (GRCm39)	missense	probably benign	0.16
Z1088:Nlrc5	UTSW	8	95,231,092 (GRCm39)	missense	possibly damaging	0.48
Z1177:Nlrc5	UTSW	8	95,233,208 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCACGCTGTAAACTGAGAGAC -3'
(R):5'- CTTGTACAGTGTGGGGAAACTG -3'

Sequencing Primer
(F):5'- GCTGTAAACTGAGAGACAAACC -3'
(R):5'- AAACTGAGCCCAGGGTTCCATG -3'

Posted On

2017-06-26